Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation inKRT5in four affected family members-Reference-Cited by-同舟云学术

Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation inKRT5in four affected family members

Published:2015-11-18 Issue:3 Volume:174 Page:633-635
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Nagai H.¹,Oiso N.²,Tomida S.³,Sakai K.³,Fujiwara S.¹,Nakamachi Y.⁴,Kawano S.⁵,Kawada A.²,Nishio K.³,Nishigori C.¹

Affiliation:

1. Division of Dermatology; Department of Internal Medicine; Kobe University Graduate School of Medicine; 7-5-1 Kusunoki-cho, Chuo-ku Kobe 650-0017 Japan

2. Department of Dermatology; Kinki University Faculty of Medicine; Osaka-Sayama Japan

3. Department of Genome Biology; Kinki University Faculty of Medicine; Osaka-Sayama Japan

4. Department of Clinical Laboratory; Kobe University Hospital; Kobe Japan

5. Division of Laboratory Medicine; Department of Internal Medicine; Kobe University Graduate School of Medicine; 7-5-1 Kusunoki-cho, Chuo-ku Kobe 650-0017 Japan

Funder

Ministry of Health, Labour and Welfare of Japan

Japanese Society of Pigment Cell Research

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.14083/fullpdf

Reference10 articles.

1. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation;Irvine;J Invest Dermatol,1997

2. Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14;Harel;J Invest Dermatol,2006